Canonical Allele Identifier: CA408103498

Gene: ADAM33

Linked Data

• MyVariant Identifiers: chr20:g.3649948T>A (hg19) ; chr20:g.3669301T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3669301T>A , CM000682.2:g.3669301T>A	GRCh38
NC_000020.10:g.3649948T>A , CM000682.1:g.3649948T>A	GRCh37
NC_000020.9:g.3597948T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356518.7:c.2402A>T MANE Select	ENSP00000348912.3:p.Gln801Leu
ENST00000350009.6:c.2324A>T	ENSP00000322550.5:p.Gln775Leu
ENST00000356518.6:c.2402A>T	ENSP00000348912.2:p.Gln801Leu
ENST00000379861.8:c.2402A>T	ENSP00000369190.4:p.Gln801Leu
ENST00000466620.5:n.1963A>T
ENST00000483362.1:n.1325A>T
ENST00000617732.1:c.*1089A>T	ENSP00000483343.1:n.*1089A>T
ENST00000619289.4:c.2042A>T	ENSP00000484600.1:p.Gln681Leu
NM_001282447.1:c.2402A>T	NP_001269376.1:p.Gln801Leu
NM_025220.3:c.2402A>T	NP_079496.1:p.Gln801Leu
NM_153202.2:c.2324A>T	NP_694882.1:p.Gln775Leu
XM_005260843.1:c.2441A>T	XP_005260900.1:p.Gln814Leu
XM_006723639.1:c.2441A>T	XP_006723702.1:p.Gln814Leu
XM_006723640.1:c.2432A>T	XP_006723703.1:p.Gln811Leu
XM_011529366.1:c.2438A>T	XP_011527668.1:p.Gln813Leu
XM_011529367.1:c.2399A>T	XP_011527669.1:p.Gln800Leu
XM_011529368.1:c.2363A>T	XP_011527670.1:p.Gln788Leu
XM_011529373.1:c.1439A>T	XP_011527675.1:p.Gln480Leu
XR_937151.1:n.2453A>T
XR_937152.1:n.2453A>T
XR_937153.1:n.2426A>T
XR_937154.1:n.2426A>T
XR_937155.1:n.2347A>T
XR_937157.1:n.2349A>T
NM_001282447.2:c.2402A>T	NP_001269376.1:p.Gln801Leu
NM_025220.4:c.2402A>T	NP_079496.1:p.Gln801Leu
NM_153202.3:c.2324A>T	NP_694882.1:p.Gln775Leu
XM_011529373.2:c.1439A>T	XP_011527675.1:p.Gln480Leu
XR_001754405.1:n.2513A>T
XR_002958534.1:n.2622A>T
NM_001282447.3:c.2402A>T	NP_001269376.1:p.Gln801Leu
NM_025220.5:c.2402A>T MANE Select	NP_079496.1:p.Gln801Leu
NM_153202.4:c.2324A>T	NP_694882.1:p.Gln775Leu